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123
Biomedical Informatics
Edward H. Shortliffe • James J. Cimino
Editors
Michael F. Chiang
Co-Editor
Biomedical
Informatics
Computer Applications in Health Care
and Biomedicine
5th Edition
Editors
Edward H. Shortliffe James J. Cimino
Biomedical Informatics Informatics Institute
Columbia University University of Alabama at
New York, NY, USA Birmingham
Birmingham, AL, USA
Co-Editor
Michael F. Chiang
National Eye Institute
National Institutes of Health
Bethesda, MD, USA
Foreword
You have taken the first step in exploring these frontiers by picking up
this book. Enjoy!
References
1. IDC White Paper, The Digitization of the World from Edge to Core, #US44413318
November 2018 7 https://www.seagate.com/files/www-content/our-story/trends/
files/idc-seagate-dataage-whitepaper.pdf
2. Vamathevan, J. V., Apweiler, R., & Birney, W. (2019). Biomedical data resources:
Bioinformatics infrastructure for biomedical data science. Annual Review of
Biomedical Data Science, 2:199–222.
3. County Health Rankings Program and Roadmap 7 https://www.
countyhealthrankings.org/explore-health-rankings/measures-data-sources/county-
health-rankings-model
4. Ledley, R., & Lusted, L. (1959). Reasoning foundations of medical diagnosis.
Science, 130, 9–21.
5. Collen, M. F. (1966). Periodic health examinations using an automated multitest
laboratory. JAMA, 195, 830–3.
6. Bleich, H. L. (1971). The computer as a consultant. New England Journal of
Medicine, 284, 141–7.
The world of biomedical research and health care has changed remark-
ably in the 30 years since the first edition of this book was published. So
too has the world of computing and communications and thus the
underlying scientific issues that sit at the intersections among biomedi-
cal science, patient care, public health, and information technology. It is
no longer necessary to argue that it has become impossible to practice
modern medicine, or to conduct modern biological research, without
information technologies. Since the initiation of the Human Genome
Project three decades ago, life scientists have been generating data at a
rate that defies traditional methods for information management and
data analysis.
Health professionals also are constantly reminded that a large per-
centage of their activities relates to information management—for
example, obtaining and recording information about patients, consult-
ing colleagues, reading and assessing the scientific literature, planning
diagnostic procedures, devising strategies for patient care, interpreting
results of laboratory and radiologic studies, or conducting case-based
and population-based research. Artificial intelligence, “big data,” and
data science are having unprecedented impact on the world, with the
biomedical field a particularly active and visible component of such
activity.
It is complexity and uncertainty, plus society’s overriding concern for
patient well-being, and the resulting need for optimal decision making,
that set medicine and health apart from many other information-
intensive fields. Our desire to provide the best possible health and health
care for our society gives a special significance to the effective organiza-
tion and management of the huge bodies of data with which health
professionals and biomedical researchers must deal. It also suggests the
need for specialized approaches and for skilled scientists who are knowl-
edgeable about human biology, clinical care, information technologies,
and the scientific issues that drive the effective use of such technologies
in the biomedical context.
In many respects, the fourth edition was very different from its prede-
cessors, however. Most importantly, it reflected the remarkable changes
in computing and communications that continued to occur, most nota-
bly in communications, networking, and health information technology
policy, and the exploding interest in the role that information technol-
ogy must play in systems integration and the melding of genomics with
innovations in clinical practice and treatment. Several new chapters
were introduced and most of the remaining ones underwent extensive
revision.
In this fifth edition, we have found that two previous single-chapter
topics have expanded to warrant two complementary chapters, specifi-
cally Cognitive Science (split into Cognitive Informatics and Human-
Computer Interaction, Usability, and Workflow) and Consumer Health
Informatics and Personal Health Records (split into Personal Health
Informatics and mHealth and Applications). There is a new chapter on
precision medicine, which has emerged in the past 6 years as a unique
area of special interest. Those readers who are familiar with the first
four editions will find that the organization and philosophy are essen-
tially unchanged (although bioinformatics, as a set of methodologies, is
now considered a “recurrent theme” rather than an “application”), but
the content is either new or extensively updated.1
This book differs from other introductions to the field in its broad
coverage and in its emphasis on the field’s conceptual underpinnings
rather than on technical details. Our book presumes no health- or
computer-science background, but it does assume that you are inter-
ested in a comprehensive domain summary that stresses the underlying
concepts and that introduces technical details only to the extent that
they are necessary to meet the principal goal. Recent specialized texts
are available to cover the technical underpinnings of many topics in this
book; many are cited as suggested readings throughout the book, or are
cited in the text for those who wish to pursue a more technical exposure
to a topic.
This book is written as a text so that it can be used in formal courses, but
we have adopted a broad view of the population for whom it is intended.
Thus, it may be used not only by students of medicine and of the other
health professions but also as an introductory text by future biomedical
informatics professionals, as well as for self-study and for reference by
practitioners, including those who are pursuing formal board certifica-
tion in clinical informatics (as is discussed in more detail later in this
1 As with the first four editions, this book has tended to draw both its examples and
its contributors from North America. There is excellent work in other parts of the
world as well, although variations in health care systems, and especially financing,
do tend to change the way in which systems evolve from one country to the next.
The basic concepts are identical, however, so the book is intended to be useful in
educational programs in other parts of the world as well.
XIV Preface to the Fifth Edition
many of the concepts and analytical tools that underlie modern compu-
tational approaches to the management of human biological data, espe-
cially in areas such as genomics and proteomics. Applications of
bioinformatics related to human health and disease later appear in a
chapter on “Translational Bioinformatics” (7 Chap. 26).
7 Chapter 10 is a comprehensive introduction to the conceptual under-
pinnings of biomedical and clinical image capture, analysis, interpretation,
and use. This overview of the basic issues and imaging modalities serves as
background for 7 Chap. 22, which deals with imaging applications issues,
highlighted in the world of radiological imaging and image management
(e.g., in picture archiving and communication systems).
7 Chapter 11 considers personal health informatics not as a set of
applications (which are covered in 7 Chap. 19), but as introductory
concepts that relate to this topic, such as notions of the digital self and
the digital divide, patient-generated health data, and how a focus on the
patient (or on healthy individuals) affects both the person and the field
of biomedical informatics.
7 Chapter 12 addresses the key legal and ethical issues that have
arisen when health information systems are considered. Then, in
7 Chap. 13, the challenges associated with technology assessment and
with the evaluation of clinical information systems are introduced.
7 Chapters 14–28 (which include two new chapters in this edition,
including one on mHealth and another on precision medicine) survey
many of the key biomedical areas in which informatics methods are
being used. Each chapter explains the conceptual and organizational
issues in building that type of system, reviews the pertinent history, and
examines the barriers to successful implementations.
7 Chapter 29 reprises and updates a chapter that was new in the
fourth edition, providing a summary of the rapidly evolving policy
issues related to health information technology. Although the emphasis
is on US government policy, there is some discussion of issues that
clearly generalize both to states (in the USA) and to other countries.
The book concludes in 7 Chap. 30 with a look to the future—a
vision of how informatics concepts, computers, and advanced commu-
nication devices one day may pervade every aspect of biomedical
research and clinical practice. Rather than offering a single point of
view developed by a group of forward thinkers, as was offered in the
fourth edition, we have invited seven prominent and innovative thinkers
to contribute their own views. We integrate these seven future perspec-
tives (representing clinical medicine, nursing, health policy, translational
bioinformatics, academic informatics, the information technology
industry, and the federal government) into a chapter where the editors
have synthesized the seven perspectives after building on how an analy-
sis of the past helps to inform the future of this dynamic field.
The actual and potential uses of computers in health care and biomedi-
cine form a remarkably broad and complex topic. However, just as you
do not need to understand how a telephone or an ATM machine works
XVI Preface to the Fifth Edition
However, the conceptual basis for study changes much more slowly than
do the detailed technological issues. Thus, the lessons you learn from
this volume will provide you with a foundation on which you can
continue to build in the years ahead.
A suggestion that new courses are needed in the curricula for students
of the health professions is generally not met with enthusiasm. If any-
thing, educators and students have been clamoring for reduced lecture
time, for more emphasis on small group sessions, and for more free time
for problem solving and reflection. Yet, in recent decades, many studies
and reports have specifically identified biomedical informatics, includ-
ing computer applications, as an area in which new educational oppor-
tunities need to be developed so that physicians and other health
professionals will be better prepared for clinical practice. As early as
1984, the Association of American Medical Colleges (AAMC) recom-
mended the formation of new academic units in biomedical informatics
in our medical schools, and subsequent studies and reports have contin-
ued to stress the importance of the field and the need for its inclusion in
the educational environments of health professionals.
The reason for this strong recommendation is clear: The practice of
medicine is inextricably entwined with the management of information. In
the past, practitioners handled medical information through resources
such as the nearest hospital or medical-school library; personal collec-
tions of books, journals, and reprints; files of patient records; consulta-
tion with colleagues; manual office bookkeeping; and (all-too-often
flawed) memorization. Although these techniques continue to be vari-
ably valuable, information technology is offering new methods for find-
ing, filing, and sorting information: online bibliographic retrieval
systems, including full-text publications; personal computers, laptops,
tablets, and smart phones, with database software to maintain personal
information and commonly used references; office-practice and clinical
information systems and EHRs to capture, communicate, and preserve
key elements of the health record; information retrieval and consulta-
tion systems to provide assistance when an answer to a question is
needed rapidly; practice-management systems to integrate billing and
receivable functions with other aspects of office or clinic organization;
and other online information resources that help to reduce the pressure
to memorize in a field that defies total mastery of all but its narrowest
aspects. With such a pervasive and inevitable role for computers in clin-
ical practice, and with a growing failure of traditional techniques to deal
with the rapidly increasing information-management needs of practitio-
ners, it has become obvious to many people that an essential topic has
emerged for study in schools and clinical training programs (such as
residencies) that train medical and other health professionals.
What is less clear is how the subject should be taught in medical
schools or other health professional degree programs, and to what
extent it should be left for postgraduate education. We believe that top-
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